Jean‐Michel Vallat

Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

Johann Böhm, Frédéric Chevessier, Catherine Koch et al. · The American Journal of Human Genetics · 2013 · 213 citations · Full text

Medicine, Biophysics, Neurology +12

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).

Alain Carrié, Fédérica Piccolo, France Leturcq et al. · Journal of Medical Genetics · 1997 · 116 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Spine deformities in Charcot-Marie-Tooth 4C caused by <i>SH3TC2</i> gene mutations

Hamid Azzedine, N. Ravisé, Christophe Verny et al. · Neurology · 2006 · 106 citations

Life Sciences, Genetics, Neurology +17

Regional difference and similarity of familial amyloidosis with polyneuropathy in France

David Adams, Pierre Lozeron, Marie Théaudin et al. · Amyloid · 2012 · 80 citations

Life Sciences, Genetics, Neurology +14

Homogeneous phenotype of the gypsy limb-girdle MD with the γ-sarcoglycan C283Y mutation

Luciano Merlini, J-C. Kaplan, Carmen Navarro et al. · Neurology · 2000 · 61 citations

Medicine, Genetics, Neurology +17